About   Help   FAQ
Pkhd1tm1.1Ggg
Targeted Allele Detail
Nomenclature
Symbol: Pkhd1tm1.1Ggg
Name: polycystic kidney and hepatic disease 1; targeted mutation 1.1, Gregory G Germino
MGI ID: MGI:3759215
Synonyms: Pkhd1del3-4
Gene: Pkhd1  Location: Chr1:20057779-20618064 bp, - strand  Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:125113
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/SvEv
Mutation
description
Allele Type:    Targeted (Hypomorph)
Mutation:    Intragenic deletion
 
Mutation detailsExon 3 and 4 wwere removed by cre-mediated recombination using the B6.129S4-Meox2tm1(cre)Sor line. The protein product is predicted to include the signal sequence but lack an adjacent 123 amino acid fragment of the extracellular domain. Authors suggest that this represents a hypomorphic allele. Production of a shortened transcript was confirmed by RT-PCR using kidney tissue. (J:125113)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Pkhd1 Mutation:  150 strains or lines available
References
Original:  J:125113 Garcia-Gonzalez MA, et al., Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. Hum Mol Genet. 2007 Aug 15;16(16):1940-50
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/10/2018
MGI 6.12
The Jackson Laboratory